Cystic Fibrosis is one of the UK's most common inherited diseases and is life-threatening.

Ben Mercer

Cystic Fibrosis

Introduction

Cystic Fibrosis is one of the UK's most common inherited diseases and is life-threatening. Cystic Fibrosis affects over 8,500 people in the UK however over two million people in the UK carry the faulty gene that causes Cystic Fibrosis. If two carriers have a child, the baby has a 1 in 4 chance of having Cystic Fibrosis. Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus, this makes it hard to breathe and digest food. Every week 2 people die due to cystic Fibrosis. Around half of the CF population can expect to live over 38 years, although new treatments mean a baby born today could expect to live even longer.(1)

Cause

A defect in the CFTR gene is the cause of cystic fibrosis. The CFTR gene makes proteins which control salt and water transportation through the cell membrane. In people who have CF, the different coding of the gene means a different protein is made which ant perform the same tasks. This causes thick, sticky mucus and very salty sweat. However some research suggests that the CFTR protein also affects the body in other ways which supports the other symptoms and complications that cystic Fibrosis has. More than a thousand known defects can affect the CFTR gene and the type of mutation can affect the severity of the disease. Other genes also may play a role in how severe the disease is. (2)

Figure 1 shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene—one from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has a 25 percent chance of inheriting two normal genes, a 50 percent chance of inheriting one normal gene and one faulty gene, and a 25 percent chance of inheriting two faulty genes.(2)

Symptoms

Cystic Fibrosis affects many different bodily functions; these include the lungs, digestive system, reproductive system, liver, ears and eyes, bones and can cause incontinence.

The large amounts ...

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Symptoms

Cystic Fibrosis affects many different bodily functions; these include the lungs, digestive system, reproductive system, liver, ears and eyes, bones and can cause incontinence.

The large amounts of thick mucus in the lungs can lead to respiratory problems and causes the body to cough and wheeze. This can damage the lining of the trachea meaning chest infections are common. Infections are also caused by the continual build-up of mucus in the lungs, which provides an ideal breeding ground for bacteria.

The mucus can also lead to blockages in the pancreas which means digestive enzymes cannot be produced causing the food to not digest properly. If the digestive enzymes are not being produced, food is not adequately digested and excess fat is lost in the stools, making them bulky, oily, smelly and difficult to flush away. Malnutrition is also a problem. Because the body cannot digest essential nutrients in food (particularly fat), it is often difficult to gain weight and infants may struggle to put on weight and grow. Adults with cystic fibrosis often find it difficult to gain and maintain weight.

Cystic Fibrosis can also cause diabetes in older people and rarely in the younger. In older people the pancreas can become more damaged. Diabetes can develop if the pancreas does not produce enough insulin. Diabetes in people with cystic fibrosis is different from diabetes in people without cystic fibrosis. Usually, the symptoms of diabetes include feeling constantly thirsty, frequently needing to pass urine and feeling extremely tired. These rarely occur in patients with cystic fibrosis. People with cystic fibrosis who develop diabetes may find it difficult to gain weight or may lose weight and see a decline in their lung function. Cystic fibrosis-related diabetes is usually controlled by regular injections of insulin.

People with cystic fibrosis can be prone to sinusitis and hay fever, which may need to be treated with nasal sprays or antibiotics. Some older children and adults develop nasal polyps, which are fleshy swellings that grow from the lining of the nose or sinuses and can cause breathing problems.

Some older children with cystic fibrosis develop a form of arthritis, usually in one or two large joints such as the knee, and also Osteoporosis.

In virtually all men with cystic fibrosis, the tubes that carry sperm do not develop correctly, making them infertile. Women with cystic fibrosis may find that their menstrual cycle becomes absent or irregular if they are underweight. There is also an increased thickness of cervical mucus, which may reduce fertility. However, most women with cystic fibrosis can become pregnant without any difficulty. Also females are like to become likely incontinent. (3)

Treatments

Treatments of CF aim to reduce the damage to the lungs and increase the nutrients that can be gained through eating. Main treatments used at the moment to reduce the effects of CF include;

Regular antibiotics to counter lung infections
Mucolytics such as Dornase alfa to make the mucus in your lungs less sticky
Asthma therapy, such as bronchodilators, to help treat blocked airways and breathing problems that may have been caused by infections
Insulin therapy for diabetes, to help your body break down sugar properly so you can maintain a healthy weight
Physiotherapy to help develop breathing techniques that reduce the effect of the mucus
Regular exercise is suggested to help develop the lungs.
Enzymes being given in supplements to help with digestion (4)
Lung transplant in severe cases (3)

Gene therapy is being worked on to remove the affects of Cystic Fibrosis. It works by modifying DNA so it has the correct CFTR gene, this means the body can then create the correct protein then inserting it in the body

However currently there are no indefinite cures for CF and people are living longer with it due to improved techniques. This has caused new problems to become apparent and new treatments have to be developed.

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